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Akademický článek

Puma, noxa, p53, and p63 differentially mediate stress pathway induced apoptosis

Autor: Jun Wang, Holly R. Thomas, Zhang Li, Nan Cher (Florence) Yeo, Hannah E. Scott, Nghi Dang, Mohammed Iqbal Hossain, Shaida A. Andrabi, John M. Parant

Publikováno v: Cell Death and Disease, Vol 12, Iss 7, Pp 1-11 (2021)

Abstract Cellular stress can lead to several human disease pathologies due to aberrant cell death. The p53 family (tp53, tp63, and tp73) and downstream transcriptional apoptotic target genes (PUMA/BBC3 and NOXA/PMAIP1) have been implicated as mediato

Externí odkaz: https://doaj.org/article/c0a32e175b274487b92a0a732188664c

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Akademický článek

Reduced sister chromatid cohesion acts as a tumor penetrance modifier.

Autor: Jun Wang, Holly R Thomas, Yu Chen, Stefanie M Percival, Stephanie C Waldrep, Ryne C Ramaker, Robert G Thompson, Sara J Cooper, Zechen Chong, John M Parant

Publikováno v: PLoS Genetics, Vol 18, Iss 8, p e1010341 (2022)

Sister chromatid cohesion (SCC) is an important process in chromosome segregation. ESCO2 is essential for establishment of SCC and is often deleted/altered in human cancers. We demonstrate that esco2 haploinsufficiency results in reduced SCC and acce

Externí odkaz: https://doaj.org/article/864da663a5114182a8a224d7246e376b

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Akademický článek

Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders

Autor: Ilaria Mannucci, Nghi D. P. Dang, Hannes Huber, Jaclyn B. Murry, Jeff Abramson, Thorsten Althoff, Siddharth Banka, Gareth Baynam, David Bearden, Ana Beleza-Meireles, Paul J. Benke, Siren Berland, Tatjana Bierhals, Frederic Bilan, Laurence A. Bindoff, Geir Julius Braathen, Øyvind L. Busk, Jirat Chenbhanich, Jonas Denecke, Luis F. Escobar, Caroline Estes, Julie Fleischer, Daniel Groepper, Charlotte A. Haaxma, Maja Hempel, Yolanda Holler-Managan, Gunnar Houge, Adam Jackson, Laura Kellogg, Boris Keren, Catherine Kiraly-Borri, Cornelia Kraus, Christian Kubisch, Gwenael Le Guyader, Ulf W. Ljungblad, Leslie Manace Brenman, Julian A. Martinez-Agosto, Matthew Might, David T. Miller, Kelly Q. Minks, Billur Moghaddam, Caroline Nava, Stanley F. Nelson, John M. Parant, Trine Prescott, Farrah Rajabi, Hanitra Randrianaivo, Simone F. Reiter, Janneke Schuurs-Hoeijmakers, Perry B. Shieh, Anne Slavotinek, Sarah Smithson, Alexander P. A. Stegmann, Kinga Tomczak, Kristian Tveten, Jun Wang, Jordan H. Whitlock, Christiane Zweier, Kirsty McWalter, Jane Juusola, Fabiola Quintero-Rivera, Utz Fischer, Nan Cher Yeo, Hans-Jürgen Kreienkamp, Davor Lessel

Publikováno v: Genome Medicine, Vol 13, Iss 1, Pp 1-19 (2021)

Abstract Background We aimed to define the clinical and variant spectrum and to provide novel molecular insights into the DHX30-associated neurodevelopmental disorder. Methods Clinical and genetic data from affected individuals were collected through

Externí odkaz: https://doaj.org/article/c447334b912746929ee920eb4139f48f

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Akademický článek

Variations in dysfunction of sister chromatid cohesion in esco2 mutant zebrafish reflect the phenotypic diversity of Roberts syndrome

Autor: Stefanie M. Percival, Holly R. Thomas, Adam Amsterdam, Andrew J. Carroll, Jacqueline A. Lees, H. Joseph Yost, John M. Parant

Publikováno v: Disease Models & Mechanisms, Vol 8, Iss 8, Pp 941-955 (2015)

Mutations in ESCO2, one of two establishment of cohesion factors necessary for proper sister chromatid cohesion (SCC), cause a spectrum of developmental defects in the autosomal-recessive disorder Roberts syndrome (RBS), warranting in vivo analysis o

Externí odkaz: https://doaj.org/article/fcca61f82c304dd399fbee14cef5790b

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